Canonical Allele Identifier: CA364276343

Gene: POLH POLR1C

Linked Data

• dbSNP Id: rs781354148
• gnomAD v2: 6-43555104-G-C
• gnomAD v3: 6-43587367-G-C
• gnomAD v4: 6-43587367-G-C
• MyVariant Identifiers: chr6:g.43555104G>C (hg19) ; chr6:g.43587367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587367G>C , CM000668.2:g.43587367G>C	GRCh38
NC_000006.11:g.43555104G>C , CM000668.1:g.43555104G>C	GRCh37
NC_000006.10:g.43663082G>C	NCBI36
NG_009252.1:g.16227G>C , LRG_470:g.16227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.368G>C (POLH) MANE Select	ENSP00000361310.4:p.Ser123Thr
ENST00000372226.1:c.368G>C (POLH)	ENSP00000361300.1:p.Ser123Thr
ENST00000372236.8:c.368G>C (POLH)	ENSP00000361310.4:p.Ser123Thr
ENST00000443535.1:c.182G>C (POLH)	ENSP00000405320.1:p.Ser61Thr
NM_001291969.1:c.118+4226G>C (POLH)	NP_001278898.1:n.118+4226G>C
NM_001291970.1:c.368G>C (POLH)	NP_001278899.1:p.Ser123Thr
NM_006502.2:c.368G>C , LRG_470t1:c.368G>C (POLH)	NP_006493.1:p.Ser123Thr
XM_005249186.2:c.182G>C (POLH)	XP_005249243.1:p.Ser61Thr
XM_011514698.1:c.118+4226G>C (POLH)	XP_011513000.1:n.118+4226G>C
XM_005249186.4:c.182G>C (POLH)	XP_005249243.1:p.Ser61Thr
XM_011514698.3:c.118+4226G>C (POLH)	XP_011513000.1:n.118+4226G>C
XM_024446466.1:c.116G>C (POLH)	XP_024302234.1:p.Ser39Thr
XM_024446467.1:c.-252G>C (POLH)	XP_024302235.1:n.-252G>C
NM_001291969.2:c.118+4226G>C (POLH)	NP_001278898.1:n.118+4226G>C
NM_001291970.2:c.368G>C (POLH)	NP_001278899.1:p.Ser123Thr
NM_006502.3:c.368G>C (POLH) MANE Select	NP_006493.1:p.Ser123Thr
NM_001318876.2:c.945+58096G>C (POLR1C)	NP_001305805.1:n.945+58096G>C